A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224413



Internal ID22367853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:215601211..215614665hg38UCSC Ensembl
Outerchr2:216465934..216479388hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38826
hg19826
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266011
SamplesNA19239
Known GenesLINC00607
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224413
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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